Incidental Mutation 'IGL02312:Mybph'
| ID |
287851 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mybph
|
| Ensembl Gene |
ENSMUSG00000042451 |
| Gene Name |
myosin binding protein H |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL02312
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
134121186-134128970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 134125188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 239
(I239F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038191]
[ENSMUST00000038445]
[ENSMUST00000086465]
[ENSMUST00000169927]
[ENSMUST00000191577]
|
| AlphaFold |
P70402 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038191
|
| SMART Domains |
Protein: ENSMUSP00000043522
Gene: ENSMUSG00000042429
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
17 |
305 |
1.1e-10 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
20 |
303 |
5e-14 |
PFAM |
|
Pfam:7tm_1
|
26 |
288 |
9.8e-52 |
PFAM |
|
low complexity region
|
311 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038445
AA Change: I239F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451
AA Change: I239F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
66 |
N/A |
INTRINSIC |
|
FN3
|
77 |
160 |
4.84e-9 |
SMART |
|
IG
|
187 |
270 |
9.78e-7 |
SMART |
|
FN3
|
273 |
355 |
1.1e-7 |
SMART |
|
IGc2
|
400 |
467 |
1.38e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086465
|
| SMART Domains |
Protein: ENSMUSP00000083656
Gene: ENSMUSG00000042429
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
20 |
303 |
5e-14 |
PFAM |
|
Pfam:7tm_1
|
26 |
288 |
1.9e-63 |
PFAM |
|
low complexity region
|
311 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169927
|
| SMART Domains |
Protein: ENSMUSP00000132105
Gene: ENSMUSG00000042429
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
20 |
303 |
5e-14 |
PFAM |
|
Pfam:7tm_1
|
26 |
288 |
1.9e-63 |
PFAM |
|
low complexity region
|
311 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191577
AA Change: I239F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451
AA Change: I239F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
66 |
N/A |
INTRINSIC |
|
FN3
|
77 |
160 |
4.84e-9 |
SMART |
|
IG
|
187 |
270 |
9.78e-7 |
SMART |
|
FN3
|
273 |
355 |
1.1e-7 |
SMART |
|
IGc2
|
400 |
467 |
1.38e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,060,369 (GRCm39) |
V454E |
probably damaging |
Het |
| Atp7b |
G |
T |
8: 22,484,786 (GRCm39) |
Q1424K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,727,066 (GRCm39) |
D30G |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
| Clint1 |
C |
T |
11: 45,784,883 (GRCm39) |
T294M |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,445,694 (GRCm39) |
T578I |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,588,797 (GRCm39) |
T1106N |
probably damaging |
Het |
| Csta3 |
A |
G |
16: 36,030,847 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,896,430 (GRCm39) |
Y3598C |
probably damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,512,300 (GRCm39) |
T235A |
probably benign |
Het |
| Eif2s1 |
T |
C |
12: 78,926,790 (GRCm39) |
I180T |
probably damaging |
Het |
| Ergic1 |
C |
A |
17: 26,848,601 (GRCm39) |
P108Q |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,161,085 (GRCm39) |
D3215V |
probably damaging |
Het |
| Galnt17 |
A |
T |
5: 131,335,371 (GRCm39) |
I23N |
probably benign |
Het |
| Gpr20 |
C |
T |
15: 73,568,275 (GRCm39) |
R38Q |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,716,088 (GRCm39) |
D743G |
probably damaging |
Het |
| H2-T5 |
T |
C |
17: 36,476,299 (GRCm39) |
I350V |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,252,510 (GRCm39) |
|
probably null |
Het |
| Hunk |
T |
C |
16: 90,272,829 (GRCm39) |
Y302H |
probably damaging |
Het |
| Ncoa3 |
G |
A |
2: 165,899,120 (GRCm39) |
A821T |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,335,474 (GRCm39) |
I979V |
possibly damaging |
Het |
| Or5w14 |
T |
C |
2: 87,541,353 (GRCm39) |
E299G |
probably benign |
Het |
| Or7h8 |
A |
T |
9: 20,124,377 (GRCm39) |
H244L |
probably damaging |
Het |
| Pdilt |
G |
A |
7: 119,118,890 (GRCm39) |
T53M |
probably benign |
Het |
| Pdlim1 |
T |
C |
19: 40,211,505 (GRCm39) |
T263A |
probably benign |
Het |
| Pik3cg |
A |
T |
12: 32,244,820 (GRCm39) |
M878K |
possibly damaging |
Het |
| Plod1 |
T |
C |
4: 148,010,614 (GRCm39) |
K279R |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,142,052 (GRCm39) |
T1602A |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,335,847 (GRCm39) |
|
probably null |
Het |
| Rnls |
G |
A |
19: 33,145,783 (GRCm39) |
T112I |
probably benign |
Het |
| Ropn1 |
G |
A |
16: 34,497,647 (GRCm39) |
V180I |
probably benign |
Het |
| Rptor |
T |
C |
11: 119,737,741 (GRCm39) |
Y605H |
possibly damaging |
Het |
| Sidt2 |
T |
C |
9: 45,858,299 (GRCm39) |
Y80C |
probably benign |
Het |
| Slit1 |
A |
T |
19: 41,590,119 (GRCm39) |
V1389E |
possibly damaging |
Het |
| Spz1 |
G |
A |
13: 92,712,393 (GRCm39) |
P28S |
probably benign |
Het |
| Sult1c2 |
T |
A |
17: 54,269,458 (GRCm39) |
M257L |
probably benign |
Het |
| Tent2 |
C |
T |
13: 93,312,041 (GRCm39) |
V220I |
probably benign |
Het |
| Tm2d3 |
T |
C |
7: 65,348,917 (GRCm39) |
|
probably null |
Het |
| Uqcr10 |
T |
C |
11: 4,654,153 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mybph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01960:Mybph
|
APN |
1 |
134,121,663 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4581001:Mybph
|
UTSW |
1 |
134,122,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0055:Mybph
|
UTSW |
1 |
134,121,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0055:Mybph
|
UTSW |
1 |
134,121,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0346:Mybph
|
UTSW |
1 |
134,125,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0669:Mybph
|
UTSW |
1 |
134,125,081 (GRCm39) |
splice site |
probably null |
|
|
R0765:Mybph
|
UTSW |
1 |
134,125,234 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1349:Mybph
|
UTSW |
1 |
134,121,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1662:Mybph
|
UTSW |
1 |
134,121,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1728:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1978:Mybph
|
UTSW |
1 |
134,124,734 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2058:Mybph
|
UTSW |
1 |
134,127,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3115:Mybph
|
UTSW |
1 |
134,122,476 (GRCm39) |
missense |
probably benign |
|
|
R4841:Mybph
|
UTSW |
1 |
134,126,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Mybph
|
UTSW |
1 |
134,126,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Mybph
|
UTSW |
1 |
134,121,273 (GRCm39) |
missense |
probably benign |
|
|
R7561:Mybph
|
UTSW |
1 |
134,121,465 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7787:Mybph
|
UTSW |
1 |
134,125,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7997:Mybph
|
UTSW |
1 |
134,122,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8673:Mybph
|
UTSW |
1 |
134,126,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation